← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-33451776-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33451776&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33451776,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000646630.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3902C>A",
"hgvs_p": "p.Pro1301His",
"transcript": "NM_006772.3",
"protein_id": "NP_006763.2",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "ENST00000646630.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3902C>A",
"hgvs_p": "p.Pro1301His",
"transcript": "ENST00000646630.1",
"protein_id": "ENSP00000496007.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "NM_006772.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3901C>A",
"hgvs_p": "p.Pro1301Thr",
"transcript": "ENST00000644458.1",
"protein_id": "ENSP00000495541.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3901,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 3965,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3853C>A",
"hgvs_p": "p.Pro1285Thr",
"transcript": "ENST00000449372.7",
"protein_id": "ENSP00000416519.4",
"transcript_support_level": 5,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3724C>A",
"hgvs_p": "p.Pro1242Thr",
"transcript": "ENST00000645250.1",
"protein_id": "ENSP00000494861.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3724,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3724,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*56C>A",
"hgvs_p": null,
"transcript": "ENST00000418600.7",
"protein_id": "ENSP00000403636.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3902C>A",
"hgvs_p": "p.Pro1301His",
"transcript": "ENST00000629380.3",
"protein_id": "ENSP00000486463.1",
"transcript_support_level": 2,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4097,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3853C>A",
"hgvs_p": "p.Pro1285Thr",
"transcript": "NM_001130066.2",
"protein_id": "NP_001123538.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3725C>A",
"hgvs_p": "p.Pro1242His",
"transcript": "ENST00000428982.4",
"protein_id": "ENSP00000412475.2",
"transcript_support_level": 5,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3644C>A",
"hgvs_p": "p.Pro1215His",
"transcript": "ENST00000682587.1",
"protein_id": "ENSP00000507403.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3905C>A",
"hgvs_p": "p.Pro1302His",
"transcript": "XM_047419450.1",
"protein_id": "XP_047275406.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3905,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 4105,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3899C>A",
"hgvs_p": "p.Pro1300His",
"transcript": "XM_047419451.1",
"protein_id": "XP_047275407.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3899,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3863C>A",
"hgvs_p": "p.Pro1288His",
"transcript": "XM_047419452.1",
"protein_id": "XP_047275408.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3863,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 4063,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3860C>A",
"hgvs_p": "p.Pro1287His",
"transcript": "XM_047419453.1",
"protein_id": "XP_047275409.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3860,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 4060,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3857C>A",
"hgvs_p": "p.Pro1286His",
"transcript": "XM_047419454.1",
"protein_id": "XP_047275410.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3857,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4057,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3821C>A",
"hgvs_p": "p.Pro1274His",
"transcript": "XM_047419455.1",
"protein_id": "XP_047275411.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 4054,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3821C>A",
"hgvs_p": "p.Pro1274His",
"transcript": "XM_047419456.1",
"protein_id": "XP_047275412.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 5734,
"cdna_end": null,
"cdna_length": 7647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3785C>A",
"hgvs_p": "p.Pro1262His",
"transcript": "XM_047419457.1",
"protein_id": "XP_047275413.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3853C>A",
"hgvs_p": "p.Pro1285Thr",
"transcript": "XM_047419465.1",
"protein_id": "XP_047275421.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3728C>A",
"hgvs_p": "p.Pro1243His",
"transcript": "XM_047419462.1",
"protein_id": "XP_047275418.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3728,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3683C>A",
"hgvs_p": "p.Pro1228His",
"transcript": "XM_047419466.1",
"protein_id": "XP_047275422.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3683,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 4368,
"cdna_end": null,
"cdna_length": 6281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "n.*82C>A",
"hgvs_p": null,
"transcript": "ENST00000293748.9",
"protein_id": "ENSP00000293748.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "n.106C>A",
"hgvs_p": null,
"transcript": "ENST00000636146.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "n.4182C>A",
"hgvs_p": null,
"transcript": "XR_007059351.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "n.*82C>A",
"hgvs_p": null,
"transcript": "ENST00000293748.9",
"protein_id": "ENSP00000293748.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*57C>A",
"hgvs_p": null,
"transcript": "XM_047419463.1",
"protein_id": "XP_047275419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*60C>A",
"hgvs_p": null,
"transcript": "XM_047419464.1",
"protein_id": "XP_047275420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1-AS1",
"gene_hgnc_id": 53831,
"hgvs_c": "n.184+2494G>T",
"hgvs_p": null,
"transcript": "ENST00000630418.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1-AS1",
"gene_hgnc_id": 53831,
"hgvs_c": "n.186+2494G>T",
"hgvs_p": null,
"transcript": "ENST00000815438.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1-AS1",
"gene_hgnc_id": 53831,
"hgvs_c": "n.147+2494G>T",
"hgvs_p": null,
"transcript": "ENST00000815439.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1-AS1",
"gene_hgnc_id": 53831,
"hgvs_c": "n.136+2494G>T",
"hgvs_p": null,
"transcript": "NR_174954.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*2973C>A",
"hgvs_p": null,
"transcript": "XM_047419458.1",
"protein_id": "XP_047275414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*2973C>A",
"hgvs_p": null,
"transcript": "XM_047419460.1",
"protein_id": "XP_047275416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1297,
"cds_start": -4,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*3028C>A",
"hgvs_p": null,
"transcript": "XM_047419461.1",
"protein_id": "XP_047275417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.*2973C>A",
"hgvs_p": null,
"transcript": "XM_047419467.1",
"protein_id": "XP_047275423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1245,
"cds_start": -4,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"dbsnp": "rs199694815",
"frequency_reference_population": 0.0000034213065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342131,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22557681798934937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.1043,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.825,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000646630.1",
"gene_symbol": "SYNGAP1",
"hgnc_id": 11497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3902C>A",
"hgvs_p": "p.Pro1301His"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NR_174954.1",
"gene_symbol": "SYNGAP1-AS1",
"hgnc_id": 53831,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.136+2494G>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 5,Intellectual disability,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Intellectual disability, autosomal dominant 5",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}